Cyclic vomiting syndrome masking a fatal metabolic disease.

Hdl Handle:
http://hdl.handle.net/10147/316948
Title:
Cyclic vomiting syndrome masking a fatal metabolic disease.
Authors:
Fitzgerald, Marianne; Crushell, Ellen; Hickey, Caroline
Citation:
Cyclic vomiting syndrome masking a fatal metabolic disease. 2013, 172 (5):707-10 Eur. J. Pediatr.
Journal:
European journal of pediatrics
Issue Date:
May-2013
URI:
http://hdl.handle.net/10147/316948
DOI:
10.1007/s00431-012-1852-z
PubMed ID:
23052622
Abstract:
Disorders of fatty acid oxidation are rare but can be fatal. Hypoglycaemia with acidosis is a cardinal feature. Cases may present during early childhood or can be delayed into adolescence or beyond. We present a case of multiple acyl-coenzyme A dehydrogenase deficiency (MADD), an extremely rare disorder of fatty acid oxidation. Our 20-year-old patient presented with cardiovascular collapse, raised anion gap metabolic acidosis and non-ketotic hypoglycaemia. She subsequently developed multi-organ failure and sadly died. She had a previous diagnosis of cyclic vomiting syndrome (CVS) for more than 10 years, warranting frequent hospital admissions. The association between CVS and MADD has been made before though the exact relationship is unclear. All patients with persistent severe CVS should have metabolic investigations to exclude disorders of fatty acid oxidation. In case of non-ketotic hypoglycaemia with acidosis, the patient should be urgently referred to a specialist in metabolic diseases. All practitioners should be aware of these rare disorders as a cause of unexplained acidosis.
Item Type:
Article
Language:
en
Keywords:
CHILD HEALTH
MeSH:
Acidosis; Adult; Diagnosis, Differential; Fatal Outcome; Female; Humans; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Vomiting
ISSN:
1432-1076

Full metadata record

DC FieldValue Language
dc.contributor.authorFitzgerald, Marianneen_GB
dc.contributor.authorCrushell, Ellenen_GB
dc.contributor.authorHickey, Carolineen_GB
dc.date.accessioned2014-05-14T12:04:07Z-
dc.date.available2014-05-14T12:04:07Z-
dc.date.issued2013-05-
dc.identifier.citationCyclic vomiting syndrome masking a fatal metabolic disease. 2013, 172 (5):707-10 Eur. J. Pediatr.en_GB
dc.identifier.issn1432-1076-
dc.identifier.pmid23052622-
dc.identifier.doi10.1007/s00431-012-1852-z-
dc.identifier.urihttp://hdl.handle.net/10147/316948-
dc.description.abstractDisorders of fatty acid oxidation are rare but can be fatal. Hypoglycaemia with acidosis is a cardinal feature. Cases may present during early childhood or can be delayed into adolescence or beyond. We present a case of multiple acyl-coenzyme A dehydrogenase deficiency (MADD), an extremely rare disorder of fatty acid oxidation. Our 20-year-old patient presented with cardiovascular collapse, raised anion gap metabolic acidosis and non-ketotic hypoglycaemia. She subsequently developed multi-organ failure and sadly died. She had a previous diagnosis of cyclic vomiting syndrome (CVS) for more than 10 years, warranting frequent hospital admissions. The association between CVS and MADD has been made before though the exact relationship is unclear. All patients with persistent severe CVS should have metabolic investigations to exclude disorders of fatty acid oxidation. In case of non-ketotic hypoglycaemia with acidosis, the patient should be urgently referred to a specialist in metabolic diseases. All practitioners should be aware of these rare disorders as a cause of unexplained acidosis.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to European journal of pediatricsen_GB
dc.subjectCHILD HEALTHen_GB
dc.subject.meshAcidosis-
dc.subject.meshAdult-
dc.subject.meshDiagnosis, Differential-
dc.subject.meshFatal Outcome-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshMultiple Acyl Coenzyme A Dehydrogenase Deficiency-
dc.subject.meshVomiting-
dc.titleCyclic vomiting syndrome masking a fatal metabolic disease.en_GB
dc.typeArticleen
dc.identifier.journalEuropean journal of pediatricsen_GB
dc.description.fundingNo fundingen
dc.description.provinceLeinsteren
dc.description.peer-reviewpeer-reviewen

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